Congenital imperforate anus complicated with 22q11.2 deletion syndrome:a case report and literature review

VernacularTitle:先天性肛门闭锁合并22q11.2缺失综合征1例报告并文献复习
Author: Min ZHANG ; Xiaodong ZHU ; Pengpeng WANG ; Wei XIE
Keywords: 22q11.2 deletion syndrome; imperforate anus; phenotype; gene
From: Journal of Clinical Pediatrics 2017;35(9):669-672
CountryChina
Language:Chinese
Abstract: Objective To explore the clinical phenotype of 22q11.2 deletion syndrome with imperforate anus. Methods The clinical diagnosis and treatment of one case of 22q11.2 deletion syndrome complicated with anal atresia were retrospectively analyzed. Gene and phenotype of this disease were analyzed, and the related literature was reviewed. Results An elder male test tube infant of twins, born to a G2P2 mother were found to have special facial features, cleft palate, congenital heart disease, and imperforate anus after birth. A genome-wide microarray scan revealed 22q11.2 deletion syndrome. In related literatures, 22q11.2 deletion syndrome could be affected by TBX1 gene, histone modification, Ranbp1 gene, and even microRNA; while imperforate anus were influenced by multiple elements such as genetic, maternal, and environmental factors and multiple embryonic developments related genes could be involved in its pathogenesis. Conclusions Congenital imperforate anus and 22q11.2 deletion syndrome are mostly sporadic cases in epidemiology and are incidental accidents in development. Whether there is a common interaction factor between them needs to be further studied and defined.